Sinoatrial node dysfunction and deafness

Preferred Label : Sinoatrial node dysfunction and deafness;

Symbol : SANDD;

CISMeF acronym : SANDD;

Type : Phenotype, molecular basis known;

Description : Patients with sinoatrial node dysfunction and deafness have congenital severe to profound deafness without vestibular dysfunction, associated with episodic syncope due to intermittent pronounced bradycardia (Baig et al., 2011). See Jervell and Lange-Nielsen syndrome (220400) for discussion of another deafness syndrome with impaired cardiac conduction.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the alpha-1D subunit of the L-type voltage-dependent calcium channel gene (CACNA1D, 114206.0001);

Prefixed ID : #614896;

Details

Origin ID

614896;

UMLS CUI

C3554018;

Automatic exact mappings (from CISMeF team)
- CACNA1D wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Sinoatrial node dysfunction and deafness [ORDO Disease]
- Sinoatrial node dysfunction and deafness (disorder) [SNOMED CT concept]
Genes related to phenotype
- Calcium channel, voltage-dependent, L type, alpha-1d subunit [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bradycardia [HPO term]
- Hearing impairment [HPO term]
ORDO concept(s)
- Sinoatrial node dysfunction and deafness [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sinoatrial node dysfunction and deafness [ORDO Disease]
- Sinoatrial node dysfunction and deafness (disorder) [SNOMED CT concept]

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